List of variants in gene FGD1 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004463.3(FGD1):c.1287T>G (p.Tyr429Ter)	rs398124155
NM_004463.3(FGD1):c.1468C>T (p.Gln490Ter)	rs398124156
NM_004463.3(FGD1):c.175C>T (p.Gln59Ter)	rs398124160
NM_004463.3(FGD1):c.2016-2A>G	rs794727099
NM_004463.3(FGD1):c.2112_2113insTT (p.Asn705fs)	rs398124161
NM_004463.3(FGD1):c.2135dup (p.Pro713fs)	rs398124162
NM_004463.3(FGD1):c.527dup (p.Leu177fs)	rs756586058
NM_004463.3(FGD1):c.577C>T (p.Arg193Ter)	rs1557189664

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